Korean J Clin Pathol.
1999 Aug;19(4):453-455.
A Case of mos 45,X/46,X, +mar. ish der(X)(wcpX+) Turner Syndrome
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- 1Department of Clinical Pathology, Chungnam National University College of Medicine, Taejeon, Korea
Abstract
- Turner syndrome is a genetic disorder that affects about 1/2,000-1/5,000 females born. The typical female with Turner syndrome has only one X chromosome in each of her cells. There are several variations on this theme as other similar chromosome anomalies occur in females with Turner syndrome. We observed a patient with short stature, abscent vagina and chromosomal abnormality. Chromosomal analysis of the patient showed 45,X/46,X, +mar. The marker chromosome was revealed as X chromosome in fluorescent in situ hybridization (FISH). We report a case of mos 45,X/46,X,+mar.ish der(X)(wcp X+) in Turner syndrome with a brief review of literature.
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